A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: Are two mutations better than one?

Dr Helen Swalwell; Dr Kasia Tonska; Dr Matthias Elstner; Emeritus Professor Michael Sir Michael Rawlins; Professor Doug Turnbull; Professor Robert Taylor

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: Are two mutations better than one? Lookup NU author(s) Dr Helen Swalwell Dr Kasia Tonska Dr Matthias Elstner Emeritus Professor Michael Sir Michael Rawlins Professor Doug Turnbull Professor Robert Taylor



Author(s)		Swalwell H, Blakely E, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns D, Turnbull DM, Haller R, Davidson M, Taylor RW
Publication type		Article
Journal		European Journal of Human Genetics
Year		2008
Volume		16
Issue		10
Pages		1265-1274
ISSN (print)		1018-4813
ISSN (electronic)		1476-5438



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Publisher		Nature Publishing Group
URL		http://dx.doi.org/10.1038/ejhg.2008.65
DOI		10.1038/ejhg.2008.65

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